Gene Variant Detail

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Gene ALK
Variant C990R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ALK C990R lies within the extracellular domain of the Alk protein (UniProt.org). C990R results in increased cell proliferation and cell viability compared to wild-type Alk in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

ALK mutant ALK C990R

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Transcript NM_004304.5
gDNA chr2:g.29227021A>G
cDNA c.2968T>C
Protein p.C990R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304.5 chr2:g.29227021A>G c.2968T>C p.C990R RefSeq GRCh38/hg38
NM_004304 chr2:g.29227021A>G c.2968T>C p.C990R RefSeq GRCh38/hg38
NM_004304.4 chr2:g.29227021A>G c.2968T>C p.C990R RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
ALK C990R unknown